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LOC122861308 Sharpr-MPRA regulatory region 7070 [ Homo sapiens (human) ]

Gene ID: 122861308, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122861308
Gene description
Sharpr-MPRA regulatory region 7070
Gene type
biological region
Feature type(s)
regulatory: silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231545571..231545892)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232030011..232030332)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232410309..232410603)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232378431-232379240 Neighboring gene neuromedin U receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232390957-232391458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232392564-232393091 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232393092-232393618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232396108-232396842 Neighboring gene uncharacterized LOC105376787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232400385-232400886 Neighboring gene MPRA-validated peak4079 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17292 Neighboring gene ribosomal protein L21 pseudogene 35 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232441753-232442472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232444740-232445240 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232445241-232445741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232446407-232447320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232447321-232448232 Neighboring gene ribosomal protein L23a pseudogene 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 12431

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_077123.2 

    Range
    101..422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    231545571..231545892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    232030011..232030332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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